NSUN5
Description
The NSUN5 (NOP2/Sun RNA methyltransferase 5) is a protein-coding gene located on chromosome 7.
The NSUN5 gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of an evolutionarily conserved protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in two transcript variants encoding different isoforms.
NSUN5 is an S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA. This methylation promotes protein translation without affecting ribosome biogenesis or fidelity. NSUN5 is essential for the development of the corpus callosum and cerebral cortex.
NSUN5 is also known as NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1).
Associated Diseases
- nonpapillary renal cell carcinoma
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hemoglobin E-beta-thalassemia syndrome
- X-linked sideroblastic anemia 1
- hemoglobin D disease
- alpha-thalassemia-myelodysplastic syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- primary familial polycythemia due to EPO receptor mutation
- dehydrated hereditary stomatocytosis
- alpha thalassemia-intellectual disability syndrome type 1
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- dominant beta-thalassemia
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- delta-beta-thalassemia
- glioblastoma
